Variant report

Variant	rs9468242
Chromosome Location	chr6:27810865-27810866
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27809080..27812057-chr6:28104860..28107673,2	K562	blood:
2	chr6:27093465..27120217-chr6:27768366..27817187,256	K562	blood:
3	chr6:27113744..27115349-chr6:27810239..27812800,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196787	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000198339	Chromatin interaction
ENSG00000269293	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12181629	0.90[ASN][1000 genomes]
rs2021835	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41269277	1.00[ASN][1000 genomes]
rs9461412	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9461418	1.00[ASN][1000 genomes]
rs9468236	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468243	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv432858	chr6:27719375-28011652	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	387 gene(s)	inside rSNPs	diseases
3	nsv1017440	chr6:27734824-27864277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	370 gene(s)	inside rSNPs	diseases
4	nsv1022173	chr6:27734824-27959408	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
5	nsv883512	chr6:27748631-27969004	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
6	nsv601208	chr6:27810626-27969004	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	237 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27807600-27816600	Weak transcription	Pancreas	Pancrea
2	chr6:27807800-27812800	Weak transcription	HSMM	muscle
3	chr6:27807800-27814800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:27808000-27812800	Weak transcription	Primary B cells from cord blood	blood
5	chr6:27808000-27813000	Weak transcription	HSMMtube	muscle
6	chr6:27808000-27815800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr6:27808000-27819000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr6:27808000-27822400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr6:27808000-27831800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:27808200-27815000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:27808200-27815200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:27808200-27817200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:27808200-27818800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr6:27808200-27830600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:27808400-27811800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:27808400-27812200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr6:27808400-27813000	Weak transcription	Liver	Liver
18	chr6:27808400-27814400	Weak transcription	HepG2	liver
19	chr6:27808400-27814800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:27808400-27815000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:27808400-27815000	Weak transcription	NHDF-Ad	bronchial
22	chr6:27808400-27815600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:27808400-27818000	Weak transcription	Hela-S3	cervix
24	chr6:27809600-27813000	Weak transcription	GM12878-XiMat	blood
25	chr6:27810200-27814400	Weak transcription	A549	lung
26	chr6:27810200-27816800	Strong transcription	K562	blood
27	chr6:27810400-27817800	Weak transcription	Fetal Thymus	thymus

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